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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1985 1
1990 2
1991 2
1992 1
1993 2
1996 1
1997 2
1998 1
2001 3
2002 3
2004 1
2005 1
2006 5
2007 1
2008 2
2009 2
2010 2
2011 9
2012 1
2013 6
2014 4
2015 4
2016 3
2017 3
2018 6
2019 9
2020 3
2021 4
2022 2
2023 5
2024 3

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84 results

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Page 1
Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.
Marçon CR, Maia M. Marçon CR, et al. An Bras Dermatol. 2019 Sep-Oct;94(5):503-520. doi: 10.1016/j.abd.2019.09.023. Epub 2019 Sep 30. An Bras Dermatol. 2019. PMID: 31777350 Free PMC article. Review.
Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. ...The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characte …
Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis i …
Oculocutaneous albinism.
David CV. David CV. Cutis. 2013 May;91(5):E1-4. Cutis. 2013. PMID: 23772437 Review. No abstract available.
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Vicary GW, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. Ann Am Thorac Soc. 2016. PMID: 27529121 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. ...Thus, lung transplantation remains the only potentially life-prolonging treatment. At pre …
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a …
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
Teramae A, Kobayashi Y, Kunimoto H, Nakajima K, Suzuki T, Tsuruta D, Fukai K. Teramae A, et al. J Invest Dermatol. 2019 May;139(5):1143-1149. doi: 10.1016/j.jid.2018.10.033. Epub 2018 Nov 14. J Invest Dermatol. 2019. PMID: 30447237 Free article. Review.
Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the reduction or complete lack of melanin pigment in the skin, hair, and eyes. ...
Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the reduction or complete lack of melanin pig …
Current Non-viral siRNA Delivery Systems as a Promising Treatment of Skin Diseases.
Rosa J, Suzuki I, Kravicz M, Caron A, Pupo AV, Praça FG, Bentley MVLB. Rosa J, et al. Curr Pharm Des. 2018;24(23):2644-2663. doi: 10.2174/1381612824666180807120017. Curr Pharm Des. 2018. PMID: 30084329 Review.
But we also report here other diseases where the use of siRNA has been growing as acne, alopecia areata, cutaneous leishmaniasis, mycoses, herpes, epidermolysis bullosa and oculocutaneous albinism. Also highlighted, the first clinical trial of siRNA fo …
But we also report here other diseases where the use of siRNA has been growing as acne, alopecia areata, cutaneous leishmaniasis, mycoses, h …
Solar Ultraviolet Radiation, Skin Cancer and Photoprotective Strategies in South Africa†.
Wright CY, Norval M. Wright CY, et al. Photochem Photobiol. 2023 Mar;99(2):509-518. doi: 10.1111/php.13676. Epub 2022 Jul 29. Photochem Photobiol. 2023. PMID: 35841370 Review.
Strategies for practical personal photoprotection in South Africa are discussed with particular emphasis on people at heightened risk of skin cancer including the White population group, those with HIV or oculocutaneous albinism and outdoor workers....
Strategies for practical personal photoprotection in South Africa are discussed with particular emphasis on people at heightened risk of ski …
Hermansky-Pudlak syndrome: dental management considerations.
Feliciano NZ, Rivera E, Agrait E, Rodriguez K. Feliciano NZ, et al. J Dent Child (Chic). 2006 Jan-Apr;73(1):51-6. J Dent Child (Chic). 2006. PMID: 16734315 Review.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet dysfunction, and ceroid storage. ...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet dy …
Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Merideth MA, et al. Platelets. 2020 May 18;31(4):544-547. doi: 10.1080/09537104.2019.1663810. Epub 2019 Sep 5. Platelets. 2020. PMID: 32436471 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency, oculocutaneous albin …
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. …
Spectrum of fibrosing diffuse parenchymal lung disease.
Morgenthau AS, Padilla ML. Morgenthau AS, et al. Mt Sinai J Med. 2009 Feb;76(1):2-23. doi: 10.1002/msj.20087. Mt Sinai J Med. 2009. PMID: 19170214 Free article. Review.
Hermansky-Pudlak syndrome is a rare genetic diffuse parenchymal lung disease characterized by the clinical triad of pulmonary disease, oculocutaneous albinism, and bleeding diathesis. This review provides an overview of the chronic fibrosing diffuse parenchym …
Hermansky-Pudlak syndrome is a rare genetic diffuse parenchymal lung disease characterized by the clinical triad of pulmonary disease …
Genetic diseases associated with an increased risk of skin cancer development in childhood.
Fogel AL, Sarin KY, Teng JMC. Fogel AL, et al. Curr Opin Pediatr. 2017 Aug;29(4):426-433. doi: 10.1097/MOP.0000000000000514. Curr Opin Pediatr. 2017. PMID: 28525403 Review.
The sonic hedgehog (SHH) pathway inhibitor vismodegib was shown in a placebo-controlled phase III randomized trial to reduce the tumor burden in patients with BCNS. Epidermolysis bullosa (EB) has been classified into four major types and more than 30 subtypes based …
The sonic hedgehog (SHH) pathway inhibitor vismodegib was shown in a placebo-controlled phase III randomized trial to reduce t …
84 results